Hereditary motor and sensory neuropathy, Okinawa type

Orpha code: 90117OMIM code: 604484

Definition

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

Disease data
Classification

Disease

Synonyms
HMSNP
Dziedziczna neuropatia ruchowa i czuciowa, typ proksymalny
HMSNP
Hereditary motor and sensory neuropathy, proximal type
ORPHA code
90117
OMIM code
604484
ICD10 code
G60.0
ICD11 code
8C20.Y

No additional description.

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